Special

HsaEX6015757 @ hg38

Exon Skipping

Gene
Description
LDL receptor related protein 1B [Source:HGNC Symbol;Acc:HGNC:6693]
Coordinates
chr2:140506796-140514772:-
Coord C1 exon
chr2:140514653-140514772
Coord A exon
chr2:140509928-140510056
Coord C2 exon
chr2:140506796-140506918
Length
129 bp
Sequences
Splice sites
3' ss Seq
ATTATGTTTTTGTGTTTCAGGTG
3' ss Score
11.81
5' ss Seq
GCGGTATGA
5' ss Score
7.46
Exon sequences
Seq C1 exon
ATTCTTCTTGCTCTTGGAACCAATTTGCTTGTTCCGCACAAAAATGTATTTCTAAGCATTGGATTTGTGATGGAGAAGATGACTGTGGGGATGGGTTAGATGAAAGTGACAGCATTTGTG
Seq A exon
GTGCCATAACCTGTGCTGCTGACATGTTCAGCTGCCAGGGCTCTCGTGCCTGCGTGCCCCGACATTGGCTTTGTGATGGTGAAAGGGACTGTCCAGATGGAAGCGATGAGCTTTCCACAGCAGGCTGCG
Seq C2 exon
CTCCCAATAATACATGTGATGAAAATGCTTTCATGTGCCATAATAAAGTATGCATTCCCAAGCAATTTGTTTGTGACCATGATGACGACTGTGGAGATGGCTCTGATGAGTCACCGCAGTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168702-'79-111,'79-110,80-111=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0005713=Ldl_recept_a=WD(100=95.1)
A:
PF0005713=Ldl_recept_a=WD(100=93.2)
C2:
PF0005713=Ldl_recept_a=WD(100=90.5)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTCTTCTTGCTCTTGGAACCA
R:
CACACTGCGGTGACTCATCAG
Band lengths:
242-371
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains